Leukocyte and platelet integrin function defects are present in leukocyte adhesion deficiency type III (LAD-III) due to mutations in FERMT3. Additionally, osteoclast/osteoblast dysfunction develops in LAD-III.
To discuss the distinguishing clinical, radiological, and laboratory features of LAD-III.
This study included the clinical, radiological, and laboratory characteristics of twelve LAD-III patients.
The male/female ratio was 8/4. The parental consanguinity ratio was 100%. Half of the patients had a family history of patients with similar findings. The median age at presentation and diagnosis was 18 (1-60) days and 6 (1-20) months, respectively. The median leukocyte count on admission was 43,150 (30,900-75,700)/μL. The absolute eosinophil count was tested in 8/12 patients, and eosinophilia was found in 6/8 (75%). All patients had a history of sepsis. Other severe infections were pneumonia (66.6%), omphalitis (25%), osteomyelitis (16.6%), gingivitis/periodontitis (16%), chorioretinitis (8.3%), otitis media (8.3%), diarrhea (8.3%), and palpebral conjunctiva infection (8.3%). Four patients (33.3%) received hematopoietic stem cell transplantation (HSCT) from HLA-matched-related donors, and one deceased after HSCT. At initial presentation, 4 (33.3%) patients were diagnosed with other hematologic disorders, three patients (P5, P7, and P8) with juvenile myelomonocytic leukemia (JMML), and one (P2) with myelodysplastic syndrome (MDS).
In LAD-III, leukocytosis, eosinophilia, and bone marrow findings may mimic pathologies such as JMML and MDS. In addition to non-purulent infection susceptibility, patients with LAD-III exhibit Glanzmann-type bleeding disorder. In LAD-III, absent integrin activation due to kindlin-3 deficiency disrupts osteoclast actin cytoskeleton organization. This results in defective bone resorption and osteopetrosis-like radiological changes. These are distinctive features compared to other LAD types.

Spontaneous suburothelial hemorrhage is a rare process of unclear pathologic etiology, although it has been associated with bleeding diathesis and anticoagulation. The most common clinical presentation is acute onset flank pain and macroscopic hematuria. On imaging, there is a mural thickening of the renal pelvis and upper ureters leading to luminal narrowing. Despite luminal narrowing, hydronephrosis has only rarely been reported in the association. The imaging finding of mural thickening has led to the misdiagnosis as malignancy, resulting in unnecessary nephrectomy. Suburothelial hemorrhage can be unilateral or bilateral, although the majority of reported cases are unilateral. We present a case of a patient with bilateral spontaneous suburothelial hemorrhage with forniceal rupture and spontaneous retroperitoneal hemorrhage, a unique triad compared to prior cases presented in the literature.

Bernard-Soulier syndrome is an inherited coagulopathy, with an incidence of one per million. Hemorrhagic cholecystitis is a rare and life-threatening complication of acute cholecystitis. Less than 50 patients have been reported in the previous literature. Bleeding diathesis and anticoagulant treatment are well-known predisposing factors for hemorrhagic cholecystitis. We present a 57-year-old male patient who was referred to our department with a complaint of right upper quadrant abdominal pain. Contrast-enhanced computed tomography revealed a high-density mass associated with the gallbladder lumen, and blood clot in the gallbladder lumen and hemoperitoneum which were compatible for hemorrhagic cholecystitis and gallbladder perforation. The patient underwent urgent cholecystectomy. Hemorrhagic cholecystitis often manifests as typical acute cholecystitis presentation; but several clinical findings such as fever, lower gastrointestinal bleeding or severe intraabdominal bleeding-related hypovolemic shock may also occur. Most of the described cases in prior literature have been reported to use anticoagulant medications. This report describes the second hemorrhagic cholecystitis patient with inherited bleeding diathesis and the first case with Bernard-Soulier syndrome.

Scurvy is a historically significant disease whose incidence has declined significantly with advancements in nutrition and access to varied foods. It is classically characterized by gingival bleeding, corkscrew hairs, and petechiae. In cases of severe deficiency, as seen in patients with years of a restricted diet, impaired connective tissue formation can lead to symptomatic, life-threatening bleeding diathesis. Risk factors for a restrictive diet in patients with unidentified bleeding diathesis should be recognized early to prevent significant morbidity.

UNASSIGNED: Laparoscopic surgery is associated with several advantages. Surgical procedures in hemophilia or von Willebrand patients without replacement therapy (RT) to correct clotting factor deficiency may result in serious, life-threatening hemorrhagic episodes. Clotting factor concentrates improve hemostatic control but bleeding risk in major invasive procedures remains high.
UNASSIGNED: Evaluation of totally extraperitoneal inguinal hernia repair (TEP-IHR) in patients with congenital hemorrhagic disorders (H) and comparison with results for non-hemophiliacs (NH) with regard to bleeding, postoperative pain, hernia recurrence, surgery time, demand for painkillers, hospital stay and recovery time.
UNASSIGNED: The prospective controlled trial included 67 consecutive male patients scheduled for TEP-IHR between January 2010 and December 2018. Surgery was performed in groups H (n = 22) and NH (n = 45). Full study inclusion criteria were met by 65 patients (22 and 43 in H and NH groups respectively). Follow-up was carried out on the 1st, 2nd, and 7th day and in the 1st and 3rd month postoperatively.
UNASSIGNED: TEP-IHR was successful for all patients. No life-threatening bleeding occurred and no patient required red blood cell transfusions or reoperation. No hernia recurrence was reported. No statistically significant differences were observed between the groups with regard to surgery duration, postoperative hematoma frequency and demand for painkillers. In the H group, pain intensity was significantly higher during the first postoperative month and hospitalization and recovery were significantly longer.
UNASSIGNED: TEP-IHR in hemophiliacs with RT is feasible and as effective for preventing hernia recurrence as in NH-patients. In hemophiliacs risk of bleeding complications and demand for painkillers are comparable to non-hemophiliacs although pain is more intense.

Angiostrongylus vasorum infection has been associated with coagulopathies including hyperfibrinolysis. We compared coagulation status including thromboelastometry (ROTEM) parameters in dogs naturally infected with A. vasorum versus healthy dogs to determine clinicopathological parameters associated with bleeding, hypocoagulopathy, and hyperfibrinolysis. Clinical signs, white blood cell count, platelet count, hematocrit, plasmatic coagulation tests (PT, aPTT, fibrinogen concentration), D-dimer, and ROTEM S parameters (Ex-tem, In-tem, Fib-tem, Ap-tem) were analysed and compared between bleeding, nonbleeding, and control dogs and between hypo- and normocoagulable animals. Clinical signs of bleeding were present in 6/9 (67%) hypocoagulable and 1/9 (11%) normocoagulable dogs. PT, fibrinogen concentration, and several ROTEM parameters were significantly different between hypocoagulable and normocoagulabe A. vasorum infected dogs. Hyperfibrinolysis was identified in 44% of infected dogs and was significantly more common in bleeding and hypocoagulable dogs. Hyperfibrinolysis was significantly associated with low MCFFib-tem but not with low fibrinogen concentration or increased D-dimers. CFTEx-tem > 248 swas 100% sensitive and 89% specific to predict hyperfibrinolysis. Hyperfibrinolysis, hypocoagulability and bleeding are common in A. vasorum infected dogs. Only Ex-tem and Fib-tem parameters and potentially PT were associated with bleeding or hypocoagulability. Ex-tem analysis enables detection of bleeding, hypocoagulability and hyperfibrinolysis within minutes.

BACKGROUND: Coagulopathy is the major cause of mortality and morbidity throughout the world. Globally, about 26-45% of healthy people have a history of bleeding symptoms, which may be a result of thrombocytopenia, factor deficiency, or pathological inhibitory.
OBJECTIVE: To assess coagulopathy and its associated factors among patients with bleeding diathesis at the University of Gondar Specialized Referral Hospital from January to May 2020.
METHODS: A cross-sectional study was conducted on 384 study participants with bleeding diathesis recruited by using a convenient sampling technique. Socio-demographic and clinical characteristics were collected by using questioners. Then 6 ml venous blood was collected with a needle and syringe method. About 3 ml blood was transferred to EDTA test tube for platelet count and 2.7 ml blood was transferred to a test tube containing 0.3 ml of 3.2% sodium citrated anticoagulant for coagulation test. For those study participants with prolonged coagulation tests, a mixing test was done. Blood film and stool examination were also done for malaria and intestinal parasite identification, respectively. The data were entered into EPI-Info version 3.5.3 and then transferred to SPSS version-20 for analysis. Descriptive statistics were summarized as percentages, means, and standard deviations. Bivariate and multivariate logistic regression was used to identify the associated factors, and a P-value less than 0.05 was considered statistically significant.
RESULTS: In this study, the prevalence of coagulopathy was 253/384 (65.9%; 95% CI: 61.16, 70.64). From them, 21.3% (54/253), 51.4% (130/253), and 27.3% (69/253) had only thrombocytopenia, only prolonged coagulation test, and mixed abnormality, respectively. Among participants with prolonged coagulation time, the prevalence of factor deficiency was 21.1% (42/199). Cardiac disease (AOR = 4.80; 95% CI: 2.65, 23.1), and other chronic diseases (AOR = 8.1; 95% CI: 1.84, 35.58) were significantly associated with coagulopathy.
CONCLUSIONS: In this study, coagulopathy due to inhibitory was a public health problem. The participants with cardiac and other chronic diseases were at high risk for coagulopathy. Therefore, mixing tests could be done for all prolonged coagulation tests and it could be considered as a routine laboratory test.

Multiple myeloma is a neoplastic disorder of plasma cells. An abnormal coagulation profile, though commonly seen in multiple myeloma, can rarely manifest as life-threatening hemorrhagic complications. Bleeding tendencies in multiple myeloma can be explained by a variety of mechanisms such as dysfibrinogenemia, paraprotein-induced platelet dysfunction, shortened platelet survival, damage to the vascular endothelium, and acquired von-Willebrand syndrome. Herein, we report a 61-year-old female who presented with the signs and symptoms of hemorrhagic shock with multiple myeloma, which remained refractory to a massive transfusion protocol. Her condition stabilized when she was started on dexamethasone and antifibrinolytic infusion targeting acquired dysfibrinogenemia. To the best of our knowledge, hemorrhagic shock secondary to dysfibrinogenemia is an unusual phenomenon in multiple myeloma.

BACKGROUND: Acquired haemophilia is a rare coagulation disorder characterized by autoantibodies against coagulation factor VIII leading to severe and potentially life-threatening haemorrhages. The underlying disorder causing the development of an autoimmune phenomenon is not always known, but 10%-15% could be linked to malignancies. Patients with cancer who require surgical resection represent a treatment challenge not solely due to increased risk of bleeding but also due to adverse events of immunosuppressive therapy.
METHODS: We present the case of a 67-year-old man with non-metastatic adenocarcinoma of the distal bile duct who developed concomitant acquired haemophilia a month after having been diagnosed with malignant disease. Haemostasis was established with recombinant activated factor VII, and immunosuppressive therapy was started immediately. An extensive surgical procedure was performed in order to remove the cancer and, therefore, eliminate the inhibitory autoantibodies. Due to a complicated postoperative course, relatively short period of treatment and likelihood of micrometastases, no improvement in the patient\'s status was observed. Diagnosis and treatment of acquired haemophilia as well as other coagulation disorders in patients with cancer are discussed.
CONCLUSIONS: Prompt diagnosis of acquired haemophilia is required in order to start appropriate treatment and reduce mortality. Among patients with cancer, other causes of abnormal bleeding related to malignancy should be considered.

A colonoscopy is an effective tool for colorectal cancer screening, which aims at identifying precancerous polyps and removing them. Post-polypectomy bleeding (PPB) is one of the most common complications of endoscopic polypectomy. Here, we report a rare and interesting case of a 68-year-old man known to have Hermansky-Pudlak syndrome (HPS) who presented with two days history of rectal bleeding one day after he had a screening colonoscopy with polypectomy. He had a drop in his hemoglobin count and was admitted to the medicine floor and given 1-desamino-8-D-arginine vasopressin (DDAVP). Later, his bleeding stopped and he reported improvement in his symptoms. This case illustrates the importance of considering platelet transfusion and/or administration during minor surgical procedures for patients with bleeding diathesis such as Hermansky-Pudlak syndrome.